ODCs

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1 OMIM reference -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Choroideremia

Progressive retinal dystrophy due to retinol transport defect

CHM	(UniProt - OMIM)		RBP4	(UniProt - OMIM)
RPE65	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RPE65	(0.52)	RBP4

Citations in the biomedical literature:

Choroideremia		Progressive retinal dystrophy due to retinol transport defect
	Synonym(s): - CHM - Tapetochoroidal dystrophy		Synonym(s): - Retinol dystrophy-iris coloboma-comedogenic acne syndrome

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D015794		External references: 1 OMIM reference - No MeSH references

Choroideremia
	Very frequent - Abnormal ERG / electroretinogram / electroretinography - Anomalies of eyes and vision - Mild visual loss / impaired visual acuity - Myopia - Night blindness / hemeralopia - Retinitis pigmentosa / retinal pigmentary changes - X-linked recessive inheritance Frequent - Visual loss / blindness / amblyopia
Progressive retinal dystrophy due to retinol transport defect
(no data available)